Noonan's Syndrome

The Noonan's Syndrome is a genetic developmental disorder. It is one of the most common genetically caused diseases and occurs equally in girls and boys. There is currently no curative therapy. Treatment for Noonan syndrome therefore focuses on alleviating symptoms.

What is Noonan Syndrome?

The Noonan's Syndrome is a developmental disorder that is triggered by a genetic defect. The changed gene is on chromosome number 12. The gene mutation is inherited, but can also arise of its own accord.

It causes various malformations of internal organs and appearance. The symptoms are similar to those of Ullrich-Turner syndrome, which is why the disease is also known as pseudo-Turner syndrome.

Along with Down's syndrome, Noonan's syndrome is one of the most common diseases with a genetic cause and was first described in the 1960s. The disorder was named after the doctor Jacqueline Noonan. Noonan syndrome occurs in both boys and girls.

causes

The cause of that Noonan's Syndrome is the change in a gene on the 12th chromosome. What triggers this mutation has not yet been researched. In about half of all cases of Noonan syndrome, the genetic defect is inherited and is autosomal dominant. This means that even if only one parent is the carrier of the defective gene and passes it on, the child will become ill.

In the remaining cases, the genetic defect arises sporadically (accidentally), that is, the parents themselves do not carry a modified gene, but the defect only develops in the child. Noonan syndrome therefore also occurs in children whose parents are both healthy.

Symptoms, ailments & signs

Around 80 percent of all those affected have a congenital heart defect. The mental development of children with Noonan syndrome is usually average; about a third of those affected have learning difficulties, especially in the areas of language and expression. The remaining symptoms of Noonan's syndrome are externally visible:

Almost 95 percent of those affected have wide-set eyes. An additional crease in the eyelid (Mongolian fold) can occur. Other possible changes in the eye are strabismus, oblique eyelid axes, drooping upper eyelids and curvature of the cornea. The ears are set low and can be tilted backwards; some people are hard of hearing. The jaw and face can also be changed. Wide nostrils are possible.

In children with Noonan's syndrome, the philtrum (groove between the nose and upper lip) is often clearly pronounced. The jaw can be too small, which leads to misaligned teeth. If eyes, deformed ears and a small jaw come together, the impression of a triangular face is created. The hairline can be deep. The hair is often curly to frizzy.

The neck may be widened with skin folds in Noonan syndrome, but this is less common than in Turner syndrome. Growth retardation and short stature are possible, but not noticeable in Noonan syndrome. Some patients have scoliosis. The nipples are often far apart. A funnel breast can occur. In boys, external sexual characteristics are sometimes underdeveloped, and cryptorchidism is common.

Diagnosis & course

The symptoms of the Noonan's Syndrome are diverse. The typical features of the external appearance are a large head with a small face, a high forehead and large ears that are set low. The eyes are slanted and wide apart (hypertelorism), the eyelids often droop.

The bridge of the nose is very flat, the neck thick and short. Noonan's syndrome causes short stature. The internal organs are malformations, most commonly the heart and kidneys. In boys, the sexual organs often do not develop properly. Sometimes only one testicle forms or there is an undescended testicle.

Some of the patients have a slight intellectual disability. Hearing and vision disorders can also occur. Since the symptoms are varied and vary from case to case, diagnosis based on physical signs is difficult. With the help of a blood or genetic test, the defective gene that causes Noonan syndrome can be reliably detected.

Complications

Unfortunately, Noonan's syndrome cannot be treated directly or causally. The symptoms can only be alleviated symptomatically, so that a complete healing usually does not occur. The patients suffer from various developmental disorders. This leads to short stature and various malformations in the patient. In many cases, those with Noonan syndrome suffer from teasing or bullying.

Children and young people in particular are affected by these symptoms. Due to the developmental disorders, the patients are in many cases also dependent on the help of other people in their lives. Even in adulthood it can lead to difficulties or complaints in everyday life.Furthermore, Noonan's syndrome can also lead to mental retardation, so that those affected are underdeveloped and require special care.

It can lead to hearing or visual problems. Heart defects can also occur and the patient's life expectancy can be reduced. Treatment for Noonan's syndrome is not associated with complications. The individual complaints can be corrected in some cases. However, those affected are dependent on various therapies throughout their lives.

When should you go to the doctor?

People with Noonan's syndrome should be closely monitored and treated by a doctor. This is particularly necessary in the later stages of the disease, in which the malformations increasingly affect the patient's physical condition. In addition, various side effects can occur in the course of life, which must be recognized at an early stage and treated accordingly. A doctor's visit is necessary if you experience unusual symptoms that affect your well-being and do not go away on their own within a few days.

Due to the effects of the disease on the hormonal balance, emotional complaints often arise. In addition, the delayed onset of puberty can lead to emotional complaints that must be treated therapeutically. Affected people should be presented to a psychologist at an early stage. Education about the disease and its possible consequences should be given in childhood. To do this, it can make sense to visit a specialist center for genetic diseases.

The physical symptoms are treated by various specialists. The malformations have to be corrected surgically. Vision problems should be treated by an ophthalmologist. Bad posture and major deformities are best presented to an orthopedic surgeon. Finally, you should speak to a nutritionist about dietary measures to support the healing process and to minimize the occurrence of further complications.

Treatment & Therapy

There is no curative therapy for that Noonan's Syndromebecause the disease is caused by a defective gene. The treatment focuses purely on the symptoms. Usually the malformations of the internal organs, especially the heart, are the focus of therapy.

Very often heart defects are corrected in a surgical procedure, usually a heart valve has to be replaced or a vascular narrowing has to be widened. One tries to treat the short stature by administering growth hormones. However, it must be noted that these hormones can also have a damaging effect on the heart. Therefore, careful and regular examinations of the patient are necessary during treatment.

The hearing and vision disorders can largely be remedied with glasses and hearing aids. If the children are mentally disabled, they need special early support and therapeutic support. There is often a linguistic developmental delay and articulation difficulties that can be treated with speech therapy. Physiotherapy is also used, as the patients usually have increased muscle tension and the joints are overstretched.

These problems often require orthopedic treatment. Some of the children affected have behavioral problems; an improvement in behavior can be achieved with occupational therapy. Surgical correction of the reproductive organs is often necessary in boys affected by Noonan's syndrome.

Outlook & forecast

The prognosis for Noonan's syndrome is described as unfavorable. According to the current state of research and science, there is no therapy that leads to a cure or full recovery. A genetic defect was found to be the cause of the disease. Since it is not permitted to change human genetics in any way due to legal requirements, no causal treatment can take place.

The attending physician concentrates on the individual symptoms and develops a corresponding treatment plan. This is adapted and changed depending on the further development of the child. The aim is to improve the patient's quality of life and optimize well-being. The earlier a diagnosis can be made, the sooner therapy can begin.

Early exercise programs show good results. Nevertheless, the disease is associated with a developmental disorder. Despite all efforts, there are difficulties in coping with everyday life and visual abnormalities. In addition, most of those affected have a congenital heart defect. This can develop into a life-threatening condition at any time.

The changed appearance and the general burden of the disease increases the risk of developing a mental disorder. In many cases, the functional activity of seeing or hearing is restricted. In some patients, visual aids and hearing aids can significantly improve symptoms.

prevention

One can against that Noonan's Syndrome do not prevent it as it is caused by a genetic defect. With the help of genetic tests, parents can have a genetic test checked before they become pregnant. However, Noonan syndrome can occur in the child even if both parents are healthy, as the gene mutation can develop on its own.

Aftercare

In most cases, those affected with Noonan syndrome have very few and only very limited follow-up measures available. A doctor must be consulted early on so that there are no further complications or other complaints for the person concerned. Independent healing cannot occur in Noonan's syndrome.

The earlier a doctor is contacted, the better the further course of the disease will usually be. If you want to have children, genetic testing and counseling can be carried out so that the syndrome does not recur in the descendants. Those affected are dependent on intensive and comprehensive care and support from their own family and friends.

Children in particular must be given significant support so that they can continue to develop in accordance with their age and to prevent symptoms in adulthood. Regular checks and examinations by a doctor are often necessary in order to permanently monitor the symptoms of the syndrome. In many cases, this disease reduces the life expectancy of those affected.

You can do that yourself

Noonan syndrome is associated with various cognitive impairments. Patients can still lead a symptom-free life if they take a few measures into account. First of all, comprehensive advice from a specialist is important. He or she can give tips for everyday life and refer the sick person to a physiotherapist who will support the therapy.

Furthermore, the sick have to turn to a self-help group. Talking to other sufferers makes it easier to understand and accept the disease and is also a good way to get new measures for dealing with the disease. The sick have to organize various aids, for example walking aids or special glasses, in order to cope with everyday life. Since there is still an increased risk of falls and accidents, relatives should stand by as support. A nurse can also be called in if you have pronounced Noonan syndrome.

The genetic disease takes a progressive course, which is why the medication and therapy in general always have to be adjusted. For this, the sick person or their parents should consult the responsible doctor. Drug treatment can be supported by natural pain relievers as well as massages and methods from Chinese medicine.